Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5592
Gene name	Protein kinase cGMP-dependent 1
Gene symbol	PRKG1
Synonyms (NCBI Gene)	AAT8PKGPKG1PRKG1BPRKGR1BcGKcGK 1cGK1cGKIcGKI-BETAcGKI-alpha
Chromosome	10
Chromosome location	10q11.23-q21.1
Summary	Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs149710600	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs397515330	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant

Show/Hide all (88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT437765	hsa-miR-20a-5p	ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	25447536
MIRT445697	hsa-miR-3606-5p	PAR-CLIP	22100165
MIRT445696	hsa-miR-921	PAR-CLIP	22100165
MIRT445695	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445694	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT445697	hsa-miR-3606-5p	PAR-CLIP	22100165
MIRT445696	hsa-miR-921	PAR-CLIP	22100165
MIRT445695	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445694	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT439895	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439895	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT445697	hsa-miR-3606-5p	PAR-CLIP	22100165
MIRT445696	hsa-miR-921	PAR-CLIP	22100165
MIRT445695	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445694	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT445697	hsa-miR-3606-5p	PAR-CLIP	22100165
MIRT445696	hsa-miR-921	PAR-CLIP	22100165
MIRT445695	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445694	hsa-miR-3591-5p	PAR-CLIP	22100165
MIRT1263645	hsa-miR-1257	CLIP-seq
MIRT1263646	hsa-miR-219-2-3p	CLIP-seq
MIRT1263647	hsa-miR-2355-5p	CLIP-seq
MIRT1263648	hsa-miR-2964a-3p	CLIP-seq
MIRT1263649	hsa-miR-302f	CLIP-seq
MIRT1263650	hsa-miR-3140-3p	CLIP-seq
MIRT1263651	hsa-miR-3664-5p	CLIP-seq
MIRT1263652	hsa-miR-3679-3p	CLIP-seq
MIRT1263653	hsa-miR-4286	CLIP-seq
MIRT1263654	hsa-miR-4446-5p	CLIP-seq
MIRT1263646	hsa-miR-219-2-3p	CLIP-seq
MIRT1263655	hsa-miR-298	CLIP-seq
MIRT1263656	hsa-miR-29a	CLIP-seq
MIRT1263657	hsa-miR-29b	CLIP-seq
MIRT1263658	hsa-miR-29c	CLIP-seq
MIRT1263659	hsa-miR-3182	CLIP-seq
MIRT1263660	hsa-miR-3678-3p	CLIP-seq
MIRT1263661	hsa-miR-376c	CLIP-seq
MIRT1263662	hsa-miR-4677-3p	CLIP-seq
MIRT1263663	hsa-miR-4679	CLIP-seq
MIRT1263664	hsa-miR-586	CLIP-seq
MIRT1263665	hsa-miR-622	CLIP-seq
MIRT2077591	hsa-miR-181a	CLIP-seq
MIRT2077592	hsa-miR-181b	CLIP-seq
MIRT2077593	hsa-miR-181c	CLIP-seq
MIRT2077594	hsa-miR-181d	CLIP-seq
MIRT2077595	hsa-miR-3143	CLIP-seq
MIRT2077596	hsa-miR-3671	CLIP-seq
MIRT2077597	hsa-miR-4262	CLIP-seq
MIRT2077598	hsa-miR-543	CLIP-seq
MIRT2077599	hsa-miR-607	CLIP-seq
MIRT2304122	hsa-miR-103a	CLIP-seq
MIRT2304123	hsa-miR-107	CLIP-seq
MIRT2304124	hsa-miR-1183	CLIP-seq
MIRT2304125	hsa-miR-1243	CLIP-seq
MIRT2304126	hsa-miR-1245b-3p	CLIP-seq
MIRT2304127	hsa-miR-139-5p	CLIP-seq
MIRT2304128	hsa-miR-15a	CLIP-seq
MIRT2304129	hsa-miR-15b	CLIP-seq
MIRT2304130	hsa-miR-16	CLIP-seq
MIRT2304131	hsa-miR-195	CLIP-seq
MIRT2304132	hsa-miR-2117	CLIP-seq
MIRT2304133	hsa-miR-2681	CLIP-seq
MIRT2304134	hsa-miR-365	CLIP-seq
MIRT2304135	hsa-miR-3654	CLIP-seq
MIRT2077596	hsa-miR-3671	CLIP-seq
MIRT2304136	hsa-miR-3685	CLIP-seq
MIRT2304137	hsa-miR-384	CLIP-seq
MIRT2304138	hsa-miR-3910	CLIP-seq
MIRT2304139	hsa-miR-3921	CLIP-seq
MIRT2304140	hsa-miR-424	CLIP-seq
MIRT2304141	hsa-miR-4252	CLIP-seq
MIRT2304142	hsa-miR-4256	CLIP-seq
MIRT2304143	hsa-miR-4273	CLIP-seq
MIRT2304144	hsa-miR-4653-5p	CLIP-seq
MIRT2304145	hsa-miR-4677-5p	CLIP-seq
MIRT2304146	hsa-miR-4703-3p	CLIP-seq
MIRT2304147	hsa-miR-497	CLIP-seq
MIRT2304148	hsa-miR-548an	CLIP-seq
MIRT2077599	hsa-miR-607	CLIP-seq
MIRT2601106	hsa-miR-299-5p	CLIP-seq
MIRT2601107	hsa-miR-3613-3p	CLIP-seq
MIRT2601108	hsa-miR-3613-5p	CLIP-seq
MIRT2601109	hsa-miR-4433	CLIP-seq
MIRT2601110	hsa-miR-4520a-3p	CLIP-seq
MIRT2601111	hsa-miR-4520b-3p	CLIP-seq
MIRT2601112	hsa-miR-4781-3p	CLIP-seq
MIRT2601113	hsa-miR-568	CLIP-seq
MIRT2601114	hsa-miR-659	CLIP-seq

Show/Hide all (58)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	IMP	25447536
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004692	Function	CGMP-dependent protein kinase activity	IDA	21402151
GO:0004692	Function	CGMP-dependent protein kinase activity	IEA
GO:0004692	Function	CGMP-dependent protein kinase activity	TAS
GO:0005246	Function	Calcium channel regulator activity	IDA	21402151
GO:0005515	Function	Protein binding	IPI	14608379, 16990611, 18757735, 19424179, 21402151, 25416956, 31515488, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IDA	21402151
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	16990611, 21402151
GO:0005886	Component	Plasma membrane	IEA
GO:0006468	Process	Protein phosphorylation	IDA	15905169
GO:0006468	Process	Protein phosphorylation	TAS	10851246
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	2792381
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007507	Process	Heart development	IEA
GO:0010920	Process	Negative regulation of inositol phosphate biosynthetic process	IEA
GO:0014050	Process	Negative regulation of glutamate secretion	IEA
GO:0014912	Process	Negative regulation of smooth muscle cell migration	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019934	Process	CGMP-mediated signaling	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0030036	Process	Actin cytoskeleton organization	TAS	10851246
GO:0030553	Function	CGMP binding	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042753	Process	Positive regulation of circadian rhythm	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	20826808, 27066748
GO:0043087	Process	Regulation of GTPase activity	IMP	14608379
GO:0043114	Process	Regulation of vascular permeability	IDA	36016499
GO:0043114	Process	Regulation of vascular permeability	IDA	36016499
GO:0045986	Process	Negative regulation of smooth muscle contraction	IEA
GO:0048273	Function	Mitogen-activated protein kinase p38 binding	IEA
GO:0048668	Process	Collateral sprouting	IEA
GO:0060087	Process	Relaxation of vascular associated smooth muscle	IEA
GO:0061049	Process	Cell growth involved in cardiac muscle cell development	IEA
GO:0090331	Process	Negative regulation of platelet aggregation	IMP	16990611
GO:0098868	Process	Bone growth	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IDA	25447536
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	IDA	25447536
GO:2000224	Process	Regulation of testosterone biosynthetic process	IEA

MIM	HGNC	e!Ensembl
176894	9414	ENSG00000185532

Q13976

Protein name

cGMP-dependent protein kinase 1 (cGK 1) (cGK1) (EC 2.7.11.12) (cGMP-dependent protein kinase I) (cGKI)

Protein function

Serine/threonine protein kinase that acts as a key mediator of the nitric oxide (NO)/cGMP signaling pathway. GMP binding activates PRKG1, which phosphorylates serines and threonines on many cellular proteins. Numerous protein targets for PRKG1 p

PDB

1ZXA , 3NMD , 3OCP , 3OD0 , 3OGJ , 4KU7 , 4KU8 , 4QX5 , 4QXK , 4R4L , 4R4M , 4Z07 , 5J48 , 5JAX , 5JD7 , 5L0N , 6BDL , 6BG2 , 6C0T , 7LV3 , 7MBJ , 7SSB , 7T4T , 7T4U , 7T4V , 7T4W

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16808	PKcGMP_CC	10 → 44	Coiled-coil N-terminus of cGMP-dependent protein kinase	Coiled-coil
PF00027	cNMP_binding	121 → 204	Cyclic nucleotide-binding domain	Domain
PF00027	cNMP_binding	239 → 327	Cyclic nucleotide-binding domain	Domain
PF00069	Pkinase	360 → 619	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Primarily expressed in lung and placenta. {ECO:0000269|PubMed:9192852}.

Sequence

MSELEEDFAKILMLKEERIKELEKRLSEKEEEIQELKRKLHKCQSVLPVPSTHIGPRTTR
AQGISAEPQTYRSFHDLRQAFRKFTKSERSKDLIKEAILDNDFMKNLELSQIQEIVDCMY
PVEYGKDSCIIKEGDVGSLVYVMEDGKVEVTKEGVKLCTMGPGKVFGELAILYNCTRTAT
VKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSLPEEILSKLADVLEET
HYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDV
RTANVIAAEAVTCLVIDRDSFKHLIGGLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDF
NIIDTLGVGGFGRVELVQLKSEESKTFAMKILKKRHIVDTRQQEHIRSEKQIMQGAHSDF
IVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYTACVVEAFAYLHSKGI
IYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISAD
YWSLGILMYELLTGSPPFSGPDPMKTYNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPS
ERLGNLKNGVKDIQKHKWFEGFNWEGLRKGTLTPPIIPSVASPTDTSNFDSFPEDNDEPP
PDDNSGWDIDF

Sequence length

671

Interactions

View interactions

	KEGG		Reactome
	cGMP-PKG signaling pathway Hormone signaling Vascular smooth muscle contraction Gap junction Platelet activation Circadian entrainment Thermogenesis Long-term depression Olfactory transduction Regulation of lipolysis in adipocytes Salivary secretion		Rap1 signalling cGMP effects

841

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aortic aneurysm, familial thoracic 8	Pathogenic	rs397515330	RCV000055667
Familial thoracic aortic aneurysm and aortic dissection	Pathogenic	rs397515330	RCV002311000

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs34997494	RCV005896530
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs34997494	RCV005896531
Cervical cancer	Benign; Likely benign	rs376174664	RCV005900970
Colon adenocarcinoma	Benign; Likely benign	rs34997494	RCV005896529
Connective tissue disorder	Benign; Likely benign; Uncertain significance	rs75650199, rs768867882, rs376174664, rs771700923, rs771121101, rs41280442, rs762325343, rs1554833919, rs745349839, rs765040798, rs1368918637, rs770604607	RCV000660232 RCV000660229 RCV000680606 RCV000680607 RCV000660231 RCV000680604 RCV000680605 RCV000660230 RCV000660233 RCV000660234 RCV000680602 RCV000680603
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs34997494	RCV005896532
Malignant tumor of esophagus	Uncertain significance; Benign	rs568266579, rs41274080	RCV005932691 RCV005898114
PRKG1-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs763059343, rs749159461, rs202017913, rs149710600, rs368571406, rs75650199, rs145035655, rs1353068439, rs2492777282, rs1446363363, rs778332051, rs370542792, rs2493011752, rs761759814, rs373675576 View all (14 more)	RCV003963234 RCV004754828 RCV003917542 RCV004754344 RCV003427542 RCV003977674 RCV003955402 RCV003402476 RCV003414485 RCV003896559 RCV003941933 RCV003924341 RCV003951485 RCV004754476 RCV003980043 RCV003403343 RCV003953044 RCV003945491 RCV003935662 RCV004754507 RCV003945564 RCV004754577 RCV003965673 RCV003948160 RCV003965744 RCV003895606 RCV003949358 RCV004754680 RCV003918820
Sarcoma	Benign; Likely benign	rs34997494	RCV005896533
Schizophrenia	Uncertain significance	rs2493177801	RCV002463503
Thymoma	Benign; Likely benign	rs34997494	RCV005896535
Uterine carcinosarcoma	Benign; Likely benign	rs34997494	RCV005896534
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs34997494, rs376174664	RCV005896536 RCV005900971

Show/Hide Text Mining Associations (54)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	20182759
Aortic Aneurysm Thoracic	Associate	23910461, 30087447, 32506052
Aortic Diseases	Associate	23910461, 30577811, 32506052
Aortic Dissection	Associate	23910461, 30577811, 30871887, 32506052
Aortic Dissection	Stimulate	36007983
Aortic Root Aneurysm	Associate	30871887
Arthritis Juvenile	Associate	34101054
Asthma	Associate	33628342
Brain Neoplasms	Associate	28099939
Breast Neoplasms	Associate	12571245, 21777390, 22791569, 23418348, 35564499
Carcinogenesis	Associate	40304310
Carcinoma Hepatocellular	Associate	35720901
Carcinoma Squamous Cell	Associate	35782114
Colonic Neoplasms	Associate	26713600
Colorectal Neoplasms	Associate	20348951, 26713600
Coronary Artery Dissection Spontaneous	Associate	35092149
COVID 19	Associate	35114420, 35891400
Diabetes Mellitus Type 2	Associate	37935955
Dissection Thoracic Aorta	Associate	31211624, 32199657, 33648514
Drug Hypersensitivity	Associate	33628342
Endometrial Neoplasms	Associate	34337010
Esophageal Achalasia	Associate	36614110
Esophageal Neoplasms	Associate	32756534
Familial Primary Pulmonary Hypertension	Associate	36007983
Fetal Growth Retardation	Associate	37033160
GATA2 Deficiency	Associate	33741394
Genetic Diseases Inborn	Associate	29907982
Glucosephosphate Dehydrogenase Deficiency	Associate	21235737
Hemangioma capillary infantile	Associate	39286286
Heredodegenerative Disorders Nervous System	Associate	33503999
Hypertension	Associate	30871887
Hypoxia	Associate	12107174
Inflammation	Associate	26208141
Intervertebral Disc Degeneration	Associate	38492610
Leiomyoma	Associate	33196098
Loeys Dietz Syndrome	Associate	35092149
Lupus Erythematosus Systemic	Associate	25338677, 35114420
Lymphoma T Cell Cutaneous	Associate	26551667
Muscular Atrophy	Associate	34051073
Neoplasms	Associate	12107174, 19948239, 26713600, 31322220, 34603561, 39889939
Neoplasms	Inhibit	20348951, 22791569
Nerve Degeneration	Associate	32546235, 33503999
Neuroblastoma	Associate	32546235
Obesity	Associate	15231849
Opsoclonus Myoclonus Syndrome	Associate	32546235
Ovarian Neoplasms	Associate	20371672
Pre Eclampsia	Associate	33318568
Psoriasis	Associate	37935955
Retinal Degeneration	Associate	33503999
Sezary Syndrome	Associate	26551667
Squamous Cell Carcinoma of Head and Neck	Associate	33660438
Thoracic Diseases	Associate	23910461, 30871887, 36007983
Thrombosis	Associate	35891400
Uterine Cervical Neoplasms	Associate	35782114

PRKG1 (protein kinase cGMP-dependent 1)